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Phenotypic Abnormality (PA): Abnormal heart morphology

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Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)

Shortest distance to current term (+ for parents, - for children) HP term [HP ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)
+ + + 3:   Phenotypic abnormality [HP:0000118] <25>
+ + 2:   Abnormality of the cardiovascular system [HP:0001626] <5>(59|81) (72|39|29)
+ 1:   Abnormality of cardiovascular system morphology [HP:0030680] <3>(29|40) (32|17|20)
0:   Abnormal heart morphology [HP:0001627] <16>(19|32) (23|14|20)
- 1:   Abnormal myocardium morphology [HP:0001637] <11>(3|9) (4|1|2)
- 1:   Abnormal cardiac ventricle morphology [HP:0001713] <9>(4|8) (5|3|9)
- 1:   Abnormal cardiomyocyte morphology [HP:0031331] <9>(0|0) (0|0|0)
- 1:   Abnormal cardiac atrium morphology [HP:0005120] <8>(2|3) (3|0|1)
- 1:   Abnormal spatial orientation of the cardiac segments [HP:0011534] <7>(0|1) (0|0|1)
- 1:   Abnormal pericardium morphology [HP:0001697] <6>(4|2) (4|1|0)
- 1:   Neoplasm of the heart [HP:0100544] <6>(0|0) (0|0|0)
- 1:   Abnormal anatomic location of the heart [HP:0004307] <4>(0|1) (0|0|1)
- 1:   Abnormal heart valve morphology [HP:0001654] <4>(2|7) (3|8|11)
- 1:   Abnormal cardiac septum morphology [HP:0001671] <3>(1|7) (2|3|9)
- 1:   Abnormal endocardium morphology [HP:0004306] <3>(1|0) (1|1|0)
- 1:   Congenital malformation of the right heart [HP:0011723] <3>(0|1) (0|0|0)
- 1:   Abnormal connection of the cardiac segments [HP:0011545] <2>(0|1) (0|1|2)
- 1:   Hypoplastic heart [HP:0001961] <2>(2|3) (4|2|0)
- 1:   Congenital malformation of the left heart [HP:0045017] <1>(0|1) (2|1|0)
- 1:   Cardiomegaly [HP:0001640](1|0) (1|0|0)


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
TB module/8-cys domain0Direct
Tropomyosin0.02879Inherited
MIR domain0.06088Inherited
FnI-like domain0.07447Inherited
Myosin rod fragments0.08115Inherited
MHC antigen-recognition domain0.1167Inherited
Spectrin repeat0.2678Inherited
(Trans)glycosidases0.341Inherited
Ribosomal protein S5 domain 2-like0.3597Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.417Inherited
FAD/NAD(P)-binding domain0.4237Inherited
4-helical cytokines0.484Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.5116Inherited
Protein kinase-like (PK-like)0.626Inherited
Nicotinic receptor ligand binding domain-like0.6758Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6758Inherited
Immunoglobulin0.8058Inherited
DEATH domain0.9687Inherited


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Family

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SCOP termFDR (all)Annotation (direct or inherited)
alpha-Amylases, C-terminal beta-sheet domain0Direct
Notch domain0Direct
TB module/8-cys domain0Direct
ZZ domain0Direct
Amylase, catalytic domain0.006311Inherited
DNA gyrase/MutL, second domain0.006311Inherited
DNA gyrase/MutL, N-terminal domain0.006311Inherited
beta-glycanases0.0188Inherited
Tropomyosin0.01965Inherited
Extracellular domain of cell surface receptors0.02119Inherited
Tetratricopeptide repeat (TPR)0.02849Inherited
MIR domain0.04545Inherited
VWC domain0.04545Inherited
LIM domain0.04834Inherited
SMAD domain0.05242Inherited
SMAD MH1 domain0.05242Inherited
Myosin rod fragments0.06184Inherited
MHC antigen-recognition domain0.09111Inherited
EGF-type module0.1114Inherited
PHD domain0.1572Inherited
C1 set domains (antibody constant domain-like)0.2088Inherited
Spectrin repeat0.2195Inherited
T-box0.2595Inherited
Growth factor receptor domain0.2832Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.3062Inherited
Histone lysine methyltransferases0.3062Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.3062Inherited
Erythroid transcription factor GATA-10.363Inherited
RecA protein-like (ATPase-domain)0.363Inherited
Protein kinases, catalytic subunit0.5422Inherited
Nicotinic receptor ligand binding domain-like0.6342Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6342Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
TB module/8-cys domain0Direct
Notch domain0Direct
Restriction endonuclease-like0.01918Inherited
Tropomyosin0.02027Inherited
MIR domain0.04616Inherited
SMAD MH1 domain0.0532Inherited
FnI-like domain0.05739Inherited
Myosin rod fragments0.06297Inherited
MHC antigen-recognition domain0.09322Inherited
Spectrin repeat0.2312Inherited
(Trans)glycosidases0.3008Inherited
Ribosomal protein S5 domain 2-like0.3186Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.3743Inherited
FAD/NAD(P)-binding domain0.3808Inherited
4-helical cytokines0.4402Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.4682Inherited
Protein kinase-like (PK-like)0.5863Inherited
p53-like transcription factors0.6283Inherited
Nicotinic receptor ligand binding domain-like0.6371Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6371Inherited
EF-hand0.7002Inherited
Immunoglobulin0.7721Inherited
DEATH domain0.9449Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    48726,56112
  • 48726 - Immunoglobulin
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.00652Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.02181Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.09322Inherited
    57184,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.1294Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.1433Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.2312Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.2312Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.6371Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,57581,57196
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57184,57581
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.0006287Direct
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.002981Inherited
    57196,57184,57196
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.04616Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.07291Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.07935Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.271Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.4402Inherited


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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